R43P (p.Arg43Pro) variant of ABCA3 (Q99758)
R43P (p.Arg43Pro) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SMDP3. The record also includes structural context.
R43P (p.Arg43Pro) variant details
- p.Arg43Pro
- ExAC rs754714105
- TOPMed rs754714105
- gnomAD rs754714105
- Pathogenic
- in SMDP3
- Missense
- EBI: Pathogenic (in SMDP3)
- UniProt: Pathogenic (in SMDP3)
- Structural context available